Evaluation of phenotypic and genotypic features of children with distal kidney tubular acidosis.

Atmis B. , Cevizli D., Melek E., Bisgin A., Unal I., Anarat A., ...Daha Fazla

Pediatric nephrology (Berlin, Germany), 2020 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası:
  • Basım Tarihi: 2020
  • Doi Numarası: 10.1007/s00467-020-04685-2
  • Dergi Adı: Pediatric nephrology (Berlin, Germany)


Background The present study aimed to assess genotype-phenotype correlations with long-term prognosis in children with distal kidney tubular acidosis (dKTA). The kidney function of children with dKTA could be impaired in the long-term. Methods Thirty-one children with dKTA from 23 families were included in the present study. Demographic features, growth parameters, clinical manifestations, follow-up results, and genetic analysis results of the patients were recorded. Results Eighteen children (58.1%) were male. The median age at diagnosis was 3 months. The median follow-up period was 77 months and the longest was 23.5 years. Eight (28.8%) patients had chronic kidney disease (CKD) stage 2 or 3. Three patients aged 24, 23, and 19 years had CKD stage 3 with an estimated glomerular filtration rate of 54, 57, and 48 mL/min/1.73 m(2), respectively. Thirteen patients had mutations in theATP6V0A4gene, eight had mutations in theATP6V1B1gene, and three had mutations in theSLC4A1gene. There was no significant correlation between molecular diagnosis and CKD. Growth retardation with a height below a standard deviation (SD) score of - 2 was found in 14 patients (45.1%) at the time of diagnosis. The mean height SD score at the last visit was significantly higher in patients who had adequate metabolic control at > 75% of all visits as compared with that in patients who did not. Conclusion Patients with dKTA usually have a good clinical prognosis in childhood with appropriate treatment; however, dRTA is characterized by deterioration of kidney function in adulthood, particularly after puberty.